Neural tube defect diagnosis and outcomes at a tertiary South African hospital with intensive case ascertainment

Background. Neural tube defects (NTDs) are an important category of birth defect, but surveillance remains inadequate in South Africa.Objectives. To assess the identification of NTDs at a tertiary hospital using a range of prenatal, perinatal and postnatal data sources, and to estimate the impact of prenatal diagnosis and birth prevalence for the referral area.Methods. Cases of anencephaly, encephalocele and spina bifida (SB) in a 6-year period were retrospectively identified from 5 data sources covering prenatal, perinatal and postnatal care. These were cross-correlated to avoid duplicate entries and to determine the contribution of different data sources. Details of prenatal diagnosis and termination of pregnancy (TOP) were obtained for 10 years, and birth prevalence over 2 years.Results. During a 6-year period 195 NTDs were identified at a Western Cape Province tertiary hospital. These included 59 (30%) cases of anencephaly, 28 (14%) of encephalocele and 108 (55%) of SB. The majority of NTDs (71%) were detected prenatally, although SB was less commonly diagnosed prenatally than cranial defects (56% v. 88%; p<0.001). Of SB cases ascertained pre- or postnatally, 57% of patients were born alive and 50% discharged alive, but 72% of survivors had not been diagnosed prenatally. Women receiving prenatal diagnosis of any type of NTD before 24 weeks' gestation were nearly always offered TOP, and the majority accepted termination after non-directive counselling. For SB, later prenatal diagnosis was associated with much lower termination rates because the option was less often offered (51% v. 100%; p<0.001), and perhaps less often accepted (57% v. 78%; p=0.06). The estimated NTD birth prevalence for the referral area was 0.76 - 0.80 per 1 000 live births, but perhaps up to 1.18 per 1 000 when considering under-referral of lethal cranial lesions from rural areas.Conclusions. A substantial number of NTDs can be ascertained from a tertiary hospital environment if multiple data sources are used, even though adding data from the Perinatal Problem Identification Program for outlying health facilities increases detection of lethal defects. Hospital-based surveillance can be considered, especially for SB. Prenatal diagnosis was fairly common and pregnancy termination was often offered and accepted if detected before 24 weeks' gestation. A regional prenatal ultrasound programme, predominantly based in primary care but with ready access to a tertiary centre, can be quite effective, although limited or delayed access to prenatal diagnosis must be addressed

Growth of Infants Born To HIV-Infected Women; When Fed a Biologically Acidified Starter Formula With and Without Probiotics

"Objectives: To compare the growth of HIV-exposed uninfected infants fed a biologically acidified milk formula with or without probiotics (Bifidobacterium lactis) during the first six months of life; with control infants fed a standard starter formula.Design: Multi-centre; double-blinded randomised controlled trial.Setting: Infants born to HIV-infected women delivering at one of three academic hospitals in Johannesburg; South Africa.Subjects: Consenting HIV-positive women; who had previously decided not to breast-feed; were randomised to receive one of three milk formulas for their newborn infants.Outcome measures: Comparisons of growth parameters through the first four months of life were made between infants fed the acidified formula without probiotics and those fed the control formula (""acidification effect""); and between infants fed the acidified formulas with and without added probiotics (""probiotic effect"").Results: Of 131 randomised infants; 33 (25) did not complete the study and 13 (10) were HIV infected; leaving 85 infants available for analysis. Infants receiving the acidified formula with probiotics had more rapid head growth (p=0.04) and showed a trend towards more rapid weight gain (p=0.06) over the first four months of life than the infants receiving the acidified formula without probiotics.No other significant differences between the feeding groups were demonstrated.Conclusions: Infants in all study groups grew well; with increased head growth and a trend towards increased weight gain for those receiving probiotics.There were no differences in morbidity between the three study groups and no evidence of adverse effects of the study formulas."

A simple RT-PCR-based strategy for screening connexin identity

Vertebrate gap junctions are aggregates of transmembrane channels which are composed of connexin (Cx) proteins encoded by at least fourteen distinct genes in mammals. Since the same Cx type can be expressed in different tissues and more than one Cx type can be expressed by the same cell, the thorough identification of which connexin is in which cell type and how connexin expression changes after experimental manipulation has become quite laborious. Here we describe an efficient, rapid and simple method by which connexin type(s) can be identified in mammalian tissue and cultured cells using endonuclease cleavage of RT-PCR products generated from "multi primers" (sense primer, degenerate oligonucleotide corresponding to a region of the first extracellular domain; antisense primer, degenerate oligonucleotide complementary to the second extracellular domain) that amplify the cytoplasmic loop regions of all known connexins except Cx36. In addition, we provide sequence information on RT-PCR primers used in our laboratory to screen individual connexins and predictions of extension of the "multi primer" method to several human connexins